ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3116dup (p.Thr1040fs) (rs1554690484)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657455 SCV000779190 pathogenic not provided 2018-01-26 criteria provided, single submitter clinical testing This duplication of one nucleotide in PTCH1 is denoted c.3314dupT at the cDNA level and p.Thr1106AspfsX39 (T1106DfsX39) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TTTC[dupT]GACG. The duplication causes a frameshift which changes a Threonine to an Aspartic Acid at codon 1106, and creates a premature stop codon at position 39 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.